Variant report

Variant	rs7711673
Chromosome Location	chr5:124389912-124389913
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10040754	0.85[ASN][1000 genomes]
rs11241784	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11955202	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11956633	0.80[AMR][1000 genomes]
rs28649435	0.93[ASN][1000 genomes]
rs4075487	0.93[ASN][1000 genomes]
rs4131047	0.82[JPT][hapmap]
rs4293913	0.87[ASN][1000 genomes]
rs4415071	0.82[JPT][hapmap]
rs4451044	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4510579	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4555796	1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4835863	0.80[AMR][1000 genomes]
rs4836144	0.91[ASN][1000 genomes]
rs55888913	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55919034	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58908150	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59612060	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62372843	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62372851	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6595573	0.87[ASN][1000 genomes]
rs6866873	0.93[ASN][1000 genomes]
rs6872841	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72787446	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7444307	0.90[ASN][1000 genomes]
rs7446011	0.93[ASN][1000 genomes]
rs7700716	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9686683	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv4984	chr5:124377028-124401500	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv830475	chr5:124387292-124550256	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7711673	ZNF608	cis	lymphoblastoid	seeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124382800-124394200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:124382800-124394200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:124387200-124392200	Weak transcription	Brain Anterior Caudate	brain
4	chr5:124387200-124392400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:124387200-124392400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:124387200-124392400	Weak transcription	Brain Substantia Nigra	brain
7	chr5:124387400-124392400	Weak transcription	Aorta	Aorta
8	chr5:124388200-124390600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:124388400-124390000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:124388400-124390200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:124388400-124396400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:124388400-124396400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:124388600-124390000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:124388600-124392400	Weak transcription	Left Ventricle	heart
15	chr5:124388600-124395000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:124388800-124390400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr5:124389400-124390200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr5:124389400-124390200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:124389600-124390000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:124389600-124390200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:124389600-124390400	Enhancers	NHEK	skin
22	chr5:124389600-124396200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:124389800-124390600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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